gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60562005 (AFR)
Genomes Max Group AF
0.60562005 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.105027786T>C , CM000673.2:g.105027786T>C | GRCh38 |
| NC_000011.9:g.104898513T>C , CM000673.1:g.104898513T>C | GRCh37 |
| NC_000011.8:g.104403723T>C | NCBI36 |
| NG_029124.1:g.12345A>G | |
| NG_029124.2:g.12345A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525825.6:c.944-835A>G | ENSP00000434779.1:n.944-835A>G | |
| ENST00000532439.6:c.565-835A>G | ||
| ENST00000695714.1:c.*495-835A>G | ENSP00000512113.1:n.*495-835A>G | |
| ENST00000695715.1:c.890-835A>G | ENSP00000512114.1:n.890-835A>G | |
| ENST00000695716.1:c.*717-835A>G | ENSP00000512253.1:n.*717-835A>G | |
| ENST00000695717.1:c.890-835A>G | ENSP00000512115.1:n.890-835A>G | |
| ENST00000695718.1:c.890-835A>G | ENSP00000512116.1:n.890-835A>G | |
| ENST00000695719.1:c.944-835A>G | ENSP00000512117.1:n.944-835A>G | |
| ENST00000695720.1:c.1007-835A>G | ENSP00000512118.1:n.1007-835A>G | |
| ENST00000695721.1:c.890-835A>G | ENSP00000512119.1:n.890-835A>G | |
| ENST00000695722.1:c.890-835A>G | ENSP00000512120.1:n.890-835A>G | |
| ENST00000533400.6:c.1007-835A>G MANE Select | ENSP00000433138.1:n.1007-835A>G | |
| ENST00000353247.9:c.59-835A>G | ENSP00000344132.5:n.59-835A>G | |
| ENST00000436863.7:c.1007-835A>G | ENSP00000410076.3:n.1007-835A>G | |
| ENST00000446369.5:c.584-835A>G | ENSP00000403260.1:n.584-835A>G | |
| ENST00000525825.5:c.944-835A>G | ENSP00000434779.1:n.944-835A>G | |
| ENST00000526568.5:c.728-835A>G | ENSP00000434250.1:n.728-835A>G | |
| ENST00000527979.5:c.896-835A>G | ENSP00000432340.1:n.896-835A>G | |
| ENST00000528974.1:c.890-793A>G | ENSP00000434259.1:n.890-793A>G | |
| ENST00000529871.1:c.*495-835A>G | ENSP00000431947.1:n.*495-835A>G | |
| ENST00000531166.5:c.59-835A>G | ENSP00000434303.1:n.59-835A>G | |
| ENST00000532439.5:c.554-835A>G | ENSP00000435536.1:n.554-835A>G | |
| ENST00000533400.5:c.1007-835A>G | ENSP00000433138.1:n.1007-835A>G | |
| ENST00000534497.5:c.584-835A>G | ENSP00000436875.1:n.584-835A>G | |
| NM_001223.4:c.944-835A>G | NP_001214.1:n.944-835A>G | |
| NM_001257118.2:c.1007-835A>G | NP_001244047.1:n.1007-835A>G | |
| NM_001257119.2:c.944-835A>G | NP_001244048.1:n.944-835A>G | |
| NM_033292.3:c.1007-835A>G | NP_150634.1:n.1007-835A>G | |
| NM_033293.3:c.728-835A>G | NP_150635.1:n.728-835A>G | |
| NM_033294.3:c.584-835A>G | NP_150636.1:n.584-835A>G | |
| NM_033295.3:c.59-835A>G | NP_150637.1:n.59-835A>G | |
| XM_006718924.2:c.1139-835A>G | XP_006718987.2:n.1139-835A>G | |
| XM_011543017.1:c.1139-835A>G | XP_011541319.1:n.1139-835A>G | |
| XM_011543018.1:c.1076-835A>G | XP_011541320.1:n.1076-835A>G | |
| XM_017018393.1:c.998-835A>G | XP_016873882.1:n.998-835A>G | |
| XM_017018394.1:c.998-835A>G | XP_016873883.1:n.998-835A>G | |
| XM_017018395.1:c.935-835A>G | XP_016873884.1:n.935-835A>G | |
| XM_017018396.1:c.917-835A>G | XP_016873885.1:n.917-835A>G | |
| NM_001257118.3:c.1007-835A>G MANE Select | NP_001244047.1:n.1007-835A>G | |
| NM_001223.5:c.944-835A>G | NP_001214.1:n.944-835A>G | |
| NM_001257119.3:c.944-835A>G | NP_001244048.1:n.944-835A>G | |
| NM_033292.4:c.1007-835A>G | NP_150634.1:n.1007-835A>G | |
| NM_033293.4:c.728-835A>G | NP_150635.1:n.728-835A>G | |
| NM_033294.4:c.584-835A>G | NP_150636.1:n.584-835A>G | |
| NM_033295.4:c.59-835A>G | NP_150637.1:n.59-835A>G |